Canonical Allele Identifier: CA360366809

Gene: ADGRV1

Linked Data

• ClinVar Variation Id: 1509879
• ClinVar RCV Id: RCV002011359
• dbSNP Id: rs1755687174
• gnomAD v3: 5-90755085-A-T
• gnomAD v4: 5-90755085-A-T
• MyVariant Identifiers: chr5:g.90050902A>T (hg19) ; chr5:g.90755085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90755085A>T , CM000667.2:g.90755085A>T	GRCh38
NC_000005.9:g.90050902A>T , CM000667.1:g.90050902A>T	GRCh37
NC_000005.8:g.90086658A>T	NCBI36
NG_007083.1:g.201286A>T
NG_007083.2:g.230742A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405460.9:c.11480A>T MANE Select	ENSP00000384582.2:p.Asp3827Val
ENST00000425867.3:c.611A>T	ENSP00000392618.3:p.Asp204Val
ENST00000639431.1:c.265+78876A>T	ENSP00000491057.1:n.265+78876A>T
ENST00000640374.1:n.4624A>T
ENST00000640464.1:n.1899A>T
ENST00000405460.6:c.11480A>T	ENSP00000384582.2:p.Asp3827Val
ENST00000509621.1:c.4177A>T
NM_032119.3:c.11480A>T	NP_115495.3:p.Asp3827Val
NR_003149.1:n.11493A>T
XM_011543675.1:c.11477A>T	XP_011541977.1:p.Asp3826Val
XM_011543676.1:c.11399A>T	XP_011541978.1:p.Asp3800Val
XM_011543677.1:c.8783A>T	XP_011541979.1:p.Asp2928Val
XM_011543678.1:c.11480A>T	XP_011541980.1:p.Asp3827Val
NM_032119.4:c.11480A>T MANE Select	NP_115495.3:p.Asp3827Val
XM_017009963.2:c.11501A>T	XP_016865452.1:p.Asp3834Val
XM_017009964.2:c.11498A>T	XP_016865453.1:p.Asp3833Val
XM_017009965.1:c.11498A>T	XP_016865454.1:p.Asp3833Val
XM_017009966.2:c.11420A>T	XP_016865455.1:p.Asp3807Val
XM_017009967.1:c.11405A>T	XP_016865456.1:p.Asp3802Val
XM_017009968.2:c.11501A>T	XP_016865457.1:p.Asp3834Val
XM_017009969.2:c.11501A>T	XP_016865458.1:p.Asp3834Val
XM_017009970.2:c.11501A>T	XP_016865459.1:p.Asp3834Val
XM_017009971.2:c.11501A>T	XP_016865460.1:p.Asp3834Val
XM_017009972.1:c.4619A>T	XP_016865461.1:p.Asp1540Val
XM_017009973.1:c.4598A>T	XP_016865462.1:p.Asp1533Val
NR_003149.2:n.11496A>T